Exome sequencing in severe proteinuric hypertension in pregnancy
Research type
Research Study
Full title
Whole-exome sequencing to determine the potential genetic basis of severe early onset proteinuric hypertensive disease in pregnancy
IRAS ID
177814
Contact name
Jenny Myers
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Background: Pre-eclampsia is a common complication of pregnancy (4-5%) characterised by high blood pressure and protein in the urine (proteinuria). A small number of women develop a very severe form of this disease between 18-24 weeks gestation and have very dismal pregnancy outcomes. It is usual that the pregnancy results in either a perinatal death or the delivery of an extremely premature infant. Whilst the hypertension and proteinuria, which are most commonly first diagnosed during the pregnancy, usually improve to some degree after the pregnancy, the women affected by this very severe disease in pregnancy have persistent proteinuria after delivery. We hypothesise that there is an underlying genetic problem in these women and this is unmasked by pregnancy.\n\nAim: To use genetic analysis to determine a potential genetic basis of severe early onset proteinuric hypertensive disease\n\nHow it will benefit: This kind of genetic analysis has not previously been performed in the context of severe early-onset proteinuric hypertension in pregnancy. Our current understanding of this rare syndrome is very limited and in our current practice we have very little to offer the families affected. Identification of a genetic cause for this syndrome would provide improved diagnostic resolution and potential enable the development of novel treatments in the future.\n\nSignificance of the research: Whilst the prevalence of this very severe, early onset variant of proteinuric hypertension in pregnancy is low (approx. 1 in 5000 pregnancies), the impact of this condition on the women affected is enormous. Research aimed at improving our understanding of this condition has the potential to improve our ability to make an accurate diagnosis and optimise ongoing care and counselling for the women affected.\n\nWomen with affected pregnancies will be invited to participate and invited to attend St Mary’s Hospital in order to have a blood sample taken for genetic analysis.\n
REC name
North West - Liverpool Central Research Ethics Committee
REC reference
16/NW/0015
Date of REC Opinion
13 Jan 2016
REC opinion
Favourable Opinion